New Genes for Focal Epilepsies with Speech and Language Disorders

详细信息    查看全文

• 作者：Samantha J. Turner ; Angela T. Morgan…
• 关键词：Epilepsy ; aphasia spectrum ; Speech ; Language ; Gene ; Landau ; Kleffner syndrome ; Epileptic encephalopathy with continuous spike ; wave during sleep ; Benign childhood epilepsy with centro ; temporal spikes ; GRIN2A ; RBFOX genes ; Copy number variants ; Dysarthria ; Speech dyspraxia ; Oromotor dyspraxia ; Continuous spike ; wave in slow sleep ; Rolandic ; Atypical benign partial epilepsy ; Autosomal dominant rolandic epilepsy with speech dyspraxia
• 刊名：Current Neurology and Neuroscience Reports
• 出版年：2015
• 出版时间：June 2015
• 年：2015
• 卷：15
• 期：6
• 全文大小：384 KB
• 参考文献：Papers of particular interest, published recently, have been highlighted as: -Of importance ?-Of major importance1.Landau WM, Kleffner FR. Syndrome of acquired aphasia with convulsive disorder in children. Neurology. 1957;7:523-0.PubMed
  2.Tsai MH, Vears DF, Turner SJ, et al. Clinical genetic study of the epilepsy-aphasia spectrum. Epilepsia. 2013;54:280-.PubMed
  3.Deonna T, Roulet-Perez E. Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debate. Brain Dev. 2010;32:746-2.PubMed
  4.Rudolf G, Valenti MP, Hirsch E, Szepetowski P. From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors. Epilepsia. 2009;50 Suppl 7:25-.PubMed
  5.Tassinari CA, Cantalupo G, Dalla Bernardina B, et al. Encephalopathy related to status epilepticus during slow sleep (ESES) including Landau-Kleffner syndrome. In: Bureau M, Genton P, Dravet C, Delgado-Escueta A, Tassinari CA, Thomas P, et al., editors. Epileptic syndromes in infancy, childhood and adolescence. 5th ed. London: John Libbey Eurotext; 2012. p. 255-5.
  6.Roulet Perez E, Davidoff V, Despland PA, Deonna T. Mental and behavioural deterioration of children with epilepsy and CSWS: acquired epileptic frontal syndrome. Dev Med Child Neurol. 1993;35:661-4.PubMed
  7.Tassinari CA, Bureau M, Dravet C, Roger J, Daniele-Natale O. Electrical status epilepticus during sleep in children (ESES). In: Sterman MB, Shouse MN, Passouant P, editors. Sleep and epilepsy. New York: Academic; 1982. p. 465-9.
  8.Deonna TW, Roulet E, Fontan D, Marcoz JP. Speech and oromotor deficits of epileptic origin in benign partial epilepsy of childhood with rolandic spikes (BPERS). Relationship to the acquired aphasia-epilepsy syndrome. Neuropediatrics. 1993;24:83-.PubMed
  9.Roulet E, Deonna T, Despland PA. Prolonged intermittent drooling and oromotor dyspraxia in benign childhood epilepsy with centrotemporal spikes. Epilepsia. 1989;30:564-.PubMed
  10.Shafrir Y, Prensky AL. Acquired epileptiform opercular syndrome: a second case report, review of the literature, and comparison to the Landau-Kleffner syndrome. Epilepsia. 1995;36:1050-.PubMed
  11.-/div>Guerrini R, Pellacani S. Benign childhood focal epilepsies. Epilepsia. 2012;53 Suppl 4:9-8. Comprehensive review of the BECTS literature. PubMed
  12.Northcott E, Connolly AM, Berroya A, et al. The neuropsychological and language profile of children with benign rolandic epilepsy. Epilepsia. 2005;46:924-0.PubMed
  13.Hommet C, Billard C, Motte J, et al. Cognitive function in adolescents and young adults in complete remission from benign childhood epilepsy with centro-temporal spikes. Epileptic Disord. 2001;3:207-6.PubMed
  14.Baglietto MG, Battaglia FM, Nobili L, et al. Neuropsychological disorders related to interictal epileptic discharges during sleep in benign epilepsy of childhood with centrotemporal or rolandic spikes. Dev Med Child Neurol. 2001;43:407-2.PubMed
  15.Croona C, Kihlgren M, Lundberg S, Eeg-Olofsson O, Eeg-Olofsson KE. Neuropsychological findings in children with benign childhood epilepsy with centrotemporal spikes. Dev Med Child Neurol. 1999;41:813-.PubMed
  16.Weglage J, Demsky A, Pietsch M, Kurlemann G. Neuropsychological, intellectual, and behavioral findings in patients with centrotemporal spikes with and without seizures. Dev Med Child Neurol. 1997;39:646-1.PubMed
  17.Massa R, de Saint Martin ARC. EEG criteria predictive of complicated evolution in idiopathic rolandic epilepsy. Neurology. 2001;57:1071-.PubMed
  18.Riva D, Vago C, Franceschetti S, et al. Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes. Epilepsy Behav. 2007;10:278-5.PubMed
  19.Monjauze C, Tuller L, Hommet C, Barthez MA, Khomsi A. Language in benign childhood epilepsy with centro-temporal spikes abbreviated form: rolandic epilepsy and language. Brain Lang. 2005;92:300-.PubMed
  20.Staden U, Isaacs E, Boyd SG, Brandl U, Neville BG. Language dysfunction in children with rolandic epilepsy. Neuropediatrics. 1998;29:242-.PubMed
  21.Clarke T, Strug LJ, Murphy PL, et al. High risk of reading disability and speech sound disorder in rolandic epilepsy families: case-control study. Epilepsia. 2007;48:2258-5.PubMed Central PubMed
  22.Papavasiliou A, Mattheou D, Bazigou H, Kotsalis C, Paraskevoulakos E. Written language skills in children with benign childhood epilepsy with centrotemporal spikes. Epilepsy Behav. 2005;6:50-.PubMed
  23.Aicardi J, Chevrie JJ. Atypical benign partial epilepsy of childhood. Dev Med Child Neurol. 1982;24:281-2.PubMed
  24.Doose H, Brigger-Heuer B, Neubauer B. Children with focal sharp waves: clinical and genetic aspects. Epilepsia. 1997;38:788-6.PubMed
  25.Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM,
• 作者单位：Samantha J. Turner (1) (2) (6)
  Angela T. Morgan (1) (2) (3)
  Eliane Roulet Perez (4)
  Ingrid E. Scheffer (1) (5) (6)
  
  1. Department of Paediatrics, The University of Melbourne, The Royal Children’s Hospital, Parkville, Australia
  2. Language and Literacy Group, Murdoch Childrens Research Institute, Parkville, Australia
  6. Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia
  3. Speech Pathology Department, The Royal Children’s Hospital, Parkville, Australia
  4. Paediatric Neurology and Neurorehabilitation Unit, Hospitalier Universitaire Vaudois, Lausanne, Switzerland
  5. Florey Institute of Neuroscience and Mental Health, Melbourne, Australia
  
• 刊物主题：Neurology; Neurosciences;
• 出版者：Springer US
• ISSN：1534-6293

文摘

The last 2?years have seen exciting advances in the genetics of Landau-Kleffner syndrome and related disorders, encompassed within the epilepsy-aphasia spectrum (EAS). The striking finding of mutations in the N-methyl-d-aspartate (NMDA) receptor subunit gene GRIN2A as the first monogenic cause in up to 20?% of patients with EAS suggests that excitatory glutamate receptors play a key role in these disorders. Patients with GRIN2A mutations have a recognizable speech and language phenotype that may assist with diagnosis. Other molecules involved in RNA binding and cell adhesion have been implicated in EAS; copy number variations are also found. The emerging picture highlights the overlap between the genetic determinants of EAS with speech and language disorders, intellectual disability, autism spectrum disorders and more complex developmental phenotypes.